SUV420H1
suv420h1 Gene: A Comprehensive Guide
Description
The suv420h1 gene, located on chromosome 12 in humans, encodes a protein known as suppressor of variegation 4-20 homolog 1. This protein plays a crucial role in regulating gene expression by modifying histone proteins, which control the accessibility of DNA to cellular machinery.
Associated Diseases
Dysfunction of the suv420h1 gene has been linked to several diseases, including:
- Wilms' tumor: A type of kidney cancer that affects children
- Nervus opticus coloboma syndrome: A rare condition characterized by eye abnormalities and developmental delays
- Coffin-Siris syndrome: A genetic disorder with intellectual disability and distinctive facial features
- Miller-Dieker syndrome: A rare neurological disorder with severe intellectual disability and seizures
- Schimke immunoosseous dysplasia: A condition affecting multiple organs, including the kidneys, skeleton, and immune system
Did you Know ?
A study published in the journal Nature Genetics found that approximately 1 in every 100,000 individuals has a pathogenic variant in the suv420h1 gene. This highlights the rarity of genetic disorders associated with this gene.
